ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2714C>G (p.Thr905Arg) (rs267608022)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000203618 SCV000107568 likely benign Lynch syndrome I 2015-11-24 reviewed by expert panel research
Invitae RCV000076539 SCV000166276 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-12-02 criteria provided, single submitter clinical testing This sequence change replaces threonine with arginine at codon 905 of the MSH2 protein (p.Thr905Arg). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and arginine. This variant is present in population databases (rs267608022, ExAC 0.003%). This variant has been reported in a family affected with colorectal cancer (PMID: 8880570). ClinVar contains an entry for this variant (Variation ID: 91037). Experimental studies have shown that this missense change does not significantly impact MSH2 activity (PMID: 9774676, 12124176). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000129528 SCV000184304 likely benign Hereditary cancer-predisposing syndrome 2020-01-06 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification
GeneDx RCV000424772 SCV000518413 likely benign not specified 2017-08-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Mendelics RCV000203618 SCV001135763 benign Lynch syndrome I 2019-05-28 criteria provided, single submitter clinical testing
Color RCV000129528 SCV001357010 uncertain significance Hereditary cancer-predisposing syndrome 2020-01-17 criteria provided, single submitter clinical testing

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